Global Variome shared LOVD

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Phenotype #0000311171 Individual ID 00419902 Associated disease MYOP Phenotype details congenital; MRC muscle strength neck neck flexors 3, neck extensors 4-; MRC muscle strength upper limbs proximal 3, distal 5; MRC muscle strength lower limbs psoas 2, thigh adductors 2, quadriceps 3, tibialis anterior 2, gastrocnemius 4+; no facial weakness; calf pseudohypertrophy; scoliosis; contractures; forced vital capacity 0.12; sleep apnoea; no cognitive impairment; no psychiatric symptoms; no cardiac involvement; EMG myopathic; normal CK level Diagnosis/Initial myopathy Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination - Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2022-10-24 22:26:15 +02:00 (CEST) Date last edited N/A

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